Table 6 Treatable causes in children
From: Guidelines on the diagnosis and management of the progressive ataxias
6.1 Glucose transporter 1 deficiency | |
Recommendation | Grade |
If Glut-1 DS is diagnosed treat with a ketogenic diet. | |
6.2 Hypobetalipoproteinaemia | |
Recommendations | Grade |
Consider management of the moderate form of hypobetalipoproteinemia by reducing the proportion of fat in the patient’s diet and vitamin E supplementation. | GPP |
6.3 Hartnup disease | |
Recommendation | Grade |
Consider treating Hartnup disease with nicotinamide or tryptophan-rich diet, and advise patients on a high protein diet, sunlight protection and avoidance of photosensitizing drugs. | GPP |
6.4 Biotinidase deficiency | |
Recommendation | Grade |
Treat patients diagnosed with biotinidase deficiency with biotin. | GPP |
6.5 Pyruvate deficiency | |
Recommendation | Grade |
Consider treatment with thiamine, carnitine or lipoic acid and advising on a ketogenic diet. | GPP |
6.6 Structural disorders | |
Recommendation | Grade |
If ataxia is due to structural causes a referral for neurosurgical treatment may be recommended. | GPP |